ABCC6 (ATP binding cassette subfamily C member 6)

2003-08-01  

Identity

HGNC
ABCC6
LOCATION
16p13.11
LOCUSID
368
ALIAS
ABC34,ARA,EST349056,GACI2,MLP1,MOAT-E,MOATE,MRP6,PXE,PXE1,URG7
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 368
MIM: 603234
HGNC: 57
Ensembl: ENSG00000091262

Variants:

dbSNP: 368
ClinVar: 368
TCGA: ENSG00000091262
COSMIC: ABCC6

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000091262ENST00000205557O95255
ENSG00000091262ENST00000456970O95255
ENSG00000091262ENST00000575728O95255
ENSG00000091262ENST00000577103I3L1Z6
ENSG00000091262ENST00000622290O95255
ENSG00000091262ENST00000640696A0A1W2PQX7

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
ABC transportersKEGGko02010
ABC transportersKEGGhsa02010
Transmembrane transport of small moleculesREACTOMER-HSA-382551
ABC-family proteins mediated transportREACTOMER-HSA-382556

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA445425Prostatic NeoplasmsDiseaseClinicalAnnotationassociatedPD20038957
PA449383docetaxelChemicalClinicalAnnotationassociatedPD20038957
PA451644thalidomideChemicalClinicalAnnotationassociatedPD20038957

References

Pubmed IDYearTitleCitations
382562072024The 75-99 C-Terminal Peptide of URG7 Protein Promotes α-Synuclein Disaggregation.0
382562072024The 75-99 C-Terminal Peptide of URG7 Protein Promotes α-Synuclein Disaggregation.0
362612882023High frequency of HTRA1 AND ABCC6 mutations in Japanese patients with adult-onset cerebral small vessel disease.3
362612882023High frequency of HTRA1 AND ABCC6 mutations in Japanese patients with adult-onset cerebral small vessel disease.3
338208322022Clinical and subclinical findings in heterozygous ABCC6 carriers: results from a Belgian cohort and clinical practice guidelines.2
345976102022Functional Assessment of Missense Variants in the ABCC6 Gene Implicated in Pseudoxanthoma Elasticum, a Heritable Ectopic Mineralization Disorder.0
360124822022Targeting ABCC6 in Mesenchymal Stem Cells: Impairment of Mature Adipocyte Lipid Homeostasis.1
360304752022ABCC6P1 pseudogene induces ABCC6 upregulation and multidrug resistance in breast cancer.1
363174592022The pathogenic c.1171A>G (p.Arg391Gly) and c.2359G>A (p.Val787Ile) ABCC6 variants display incomplete penetrance causing pseudoxanthoma elasticum in a subset of individuals.2
364970522022CircZXDC Promotes Vascular Smooth Muscle Cell Transdifferentiation via Regulating miRNA-125a-3p/ABCC6 in Moyamoya Disease.5
338208322022Clinical and subclinical findings in heterozygous ABCC6 carriers: results from a Belgian cohort and clinical practice guidelines.2
345976102022Functional Assessment of Missense Variants in the ABCC6 Gene Implicated in Pseudoxanthoma Elasticum, a Heritable Ectopic Mineralization Disorder.0
360124822022Targeting ABCC6 in Mesenchymal Stem Cells: Impairment of Mature Adipocyte Lipid Homeostasis.1
360304752022ABCC6P1 pseudogene induces ABCC6 upregulation and multidrug resistance in breast cancer.1
363174592022The pathogenic c.1171A>G (p.Arg391Gly) and c.2359G>A (p.Val787Ile) ABCC6 variants display incomplete penetrance causing pseudoxanthoma elasticum in a subset of individuals.2

Citation

Dessen P

ABCC6 (ATP binding cassette subfamily C member 6)

Atlas Genet Cytogenet Oncol Haematol. 2003-08-01

Online version: http://atlasgeneticsoncology.org/gene/543/haematological-explorer/js/cancer-prone-explorer/